title: A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Takagi
authors.forename: Shuhei
authors.initials: S
authors.lastname: Sato
authors.forename: Keiichi
authors.initials: K
authors.lastname: Hara
authors.forename: Chihiro
authors.initials: C
authors.lastname: Tani
authors.forename: Osamu
authors.initials: O
authors.lastname: Miyazaki
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D004247:DNA / Q000032:analysis / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000000981:diagnostic imaging* / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011859:Radiography; D012008:Recurrence
chemical_list: D020121:5' Untranslated Regions; C575746:IFITM5 protein, human; D008565:Membrane Proteins; D004247:DNA